Maki Gau

Implementation of risk-reducing surgery for HBOC under public insurance in Japan: a single-center experience

Hiroko Terui-Kohbata, Sayako Takahashi, Eriko Takamine, Mariko Komine et autres

6.5 months for RRM and 11.3 months for RRSO.Importantly, RRSO was significantly delayed among BRCA2 carriers compared with BRCA1 carriers (15.2 vs. 6.4 months, p = 0.02).The only three women who have continued to defer RRSO did so due to fertility considerations.Before …

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Implementation of Risk-Reducing Surgery for HBOC Under Public Insurance in Japan: A Single-Center Experience

Hiroko Terui-Kohbata, Sayako Takahashi, Eriko Takamine, Mariko Komine et autres

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Predictive Genetic Testing and Genetic Counseling for Hereditary Neuromuscular Diseases in Japan: A Case Series of 40 Clients

Makiko Egawa, Taro Ishiguro, Eriko Takamine, Sayako Takahashi et autres

ABSTRACT Background With advances in genetic medicine, the number of clients considering predictive genetic testing (PT) for hereditary neuromuscular diseases has increased, in which genetic counseling (GC) plays an important role. Aim We conducted a retrospective analysis of PT and associated GC …

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Fibrosis and severe steatosis contribute to liver dysfunction in patients with insulin resistance after hematopoietic stem cell transplantation

Haruki Yamano, Kei Takasawa, Reiko Kagawa, Yoko Saito et autres

Hyaluronidase 2 deficiency due to novel compound heterozygous variants in HYAL2: a case report of siblings with HYAL2 deficiency showing different clinical severity and literature review

Ryuta Orimoto, Eriko Adachi, Maki Gau, Yoko Saito et autres

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BMP2 is a potential causative gene for isolated dextrocardia situs solitus

Analia Yogi, Ryosei Iemura, Hisae Nakatani, Kei Takasawa et autres

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A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands

Maki Gau, Ryota Suga, Atsushi Hijikata, Ayako Kashimada et autres

Introduction: NR5A1 and NR5A2 belong to an orphan nuclear receptor group, and approximately 60% of their amino acid sequences are conserved. Transcriptional regulation of NR5A receptors depends on interactions with co-factors or unidentified ligands. Purpose and methods: We employed in vitro and …

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Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant

Shizuka Kirino, Mitsuyoshi Suzuki, Takuya Ogawa, Kei Takasawa et autres

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The High Relevance of 21-Deoxycortisol, (Androstenedione + 17α-Hydroxyprogesterone)/Cortisol, and 11-Deoxycortisol/17α-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency

Kazuhiro Watanabe, Atsumi Tsuji‐Hosokawa, Atsuko Hashimoto, Kaoru Konishi et autres

CONTEXT: There are limited reports on the detailed examination of steroid profiles for setting algorithms for 21-hydroxylase deficiency (21OHD) screening by liquid chromatography-tandem mass spectrometry (LC-MS/MS). OBJECTIVE: We aimed to define an algorithm for newborn screening of 21OHD by LC-MS/MS, measuring a …

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Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency

Ryuichi Nakagawa, Kei Takasawa, Maki Gau, Atsumi Tsuji‐Hosokawa et autres

The genetic regulation of ovarian development remains largely unclear. Indeed, in most cases of impaired ovarian development-such as 46,XX disorders of sex development (DSD) without SRY, and premature ovarian insufficiency (POI)-the genetic causes have not been identified, and the vast majority of …

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Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutation

Kei Takasawa, Yuichi Miyakawa, Yoko Saito, Eriko Adachi et autres

BACKGROUND: The most severe forms of congenital hyperinsulinism (CHI) are caused by inactivating mutations of two KATP channel genes, KCNJ11 and ABCC8. Unresponsiveness to diazoxide and need for subtotal pancreatectomy can usually be predicted by genetic form, particularly biallelic mutations in KATP …

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Adrenal suppression and anthropometric data at two years of age was not influenced by the initial hydrocortisone dose in patients with 21-hydroxylase deficiency

Yoko Saito, Kei Takasawa, Maki Gau, Takeru Yamauchi et autres

In contrast to the glucocorticoid maintenance therapy employed in patients with 21 hydroxylase deficiency (21OHD), the initial therapy remains to be optimized. The Japanese Society for Pediatric Endocrinology recommends a hydrocortisone (HC) dose of 25–100 mg/m2, which is higher than that employed …

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